For the first time, doctors treat a deadly genetic disease before birth

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A little girl is thriving after doctors in the US and Canada used a novel technique to treat her before she was born for a rare genetic disease that killed two of her sisters.

Ayla Bashir, a 16-month-old girl from Ottawa, Ontario, is the first girl treated as a fetus for Pompe disease, an inherited and often fatal disorder in which the body fails to produce part or all of a protein crucial.

Today, she is an active and happy girl who has reached her developmental milestones, according to her father, Zahid Bashir, and her mother, Sobia Qureshi.

"She's just a normal little one-and-a-half year old who keeps us on our toes," Bashir said. The couple previously lost two daughters, Zara, 2½ years old, and Sara, 8 months old, to the disease. A third pregnancy was terminated because of the disorder.

In a case study published Wednesday In the New England Journal of Medicine, the doctors describe an international collaboration during the COVID-19 pandemic that led to treatment that may have saved Ayla's life and expanded the field of potential fetal therapies. The outlook for Ayla is promising but uncertain.

"It's a ray of hope to be able to treat them in the womb instead of waiting until the damage is already well established," said Dr. Karen Fung-Kee-Fung, a maternal-fetal medicine specialist at Ottawa Hospital, who gave the award. treatment and handed over Ayla.

Fung-Kee-Fung was following a new treatment plan developed by Dr. Tippi MacKenzie, a pediatric surgeon and co-director of the Center for Maternal-Fetal Precision Medicine at the University of California, San Francisco, who shared her research after the pandemic. . she prevented Ayla's mother from traveling for care.

"We were all motivated to make this happen for this family," MacKenzie said.

Doctors have been treating fetuses before birth for three decades, often with surgery to repair birth defects like spina bifida. And they have given fetuses blood transfusions through the umbilical cord, but no medicine. In this case, the crucial enzymes were administered through a needle inserted through the mother's abdomen and guided into a vein in the umbilical cord. Ayla received six fortnightly infusions beginning around 24 weeks' gestation.

Doctors treat rare genetic diseases before birth

A little girl is thriving after doctors in the US and Canada used a novel technique to treat her before she was born for a rare genetic disease that previously claimed the lives of two of her sisters. (November 9)

“The innovation here was not the drug or the access to the fetal circulation,” said Dr. Pranesh Chakraborty, a metabolic geneticist at Childrens Hospital of Eastern Ontario, who has cared for Ayla's family for years. "The innovation was treating earlier and treating while she was still in the womb."

The unusual partnership also involved experts from Duke University in Durham, North Carolina, which has led research on Pompe disease, and the University of Washington in Seattle.

Babies with Pompe disease are often treated soon after birth with replacement enzymes to slow the devastating effects of the condition, which affects fewer than 1 in 100,000 newborns. It is caused by mutations in a gene that produces an enzyme that breaks down glycogen, or stored sugar, in cells. When that enzyme is reduced or eliminated, glycogen builds up dangerously throughout the body.

Also, the most severely affected babies, including Ayla, have an immune condition where their bodies block the infused enzymes, ultimately preventing the therapy from working. The hope is that treating Ayla early will reduce the severity of that immune response.

Babies with Pompe disease have feeding problems, muscle weakness, floppiness, and often greatly enlarged hearts. Without treatment, most die of heart or respiratory problems within the first year of life.

In late 2020, Bashir and Qureshi learned that they were expecting Ayla and that prenatal tests showed that she, too, had Pompe disease.

“It was very, very scary,” Qureshi recalled. In addition to the deceased girls, the couple have a son, Hamza, 13, and a daughter, Maha, 5, who are not affected.

Both parents carry a recessive gene for Pompe disease, which means there is a 1 in 4 chance that a baby will inherit the disease. Bashir said his decision to continue with additional pregnancies was guided by his Muslim faith.

“We believe that what will come our way is part of what is meant or meant for us,” he said. They have no plans for more children, they said.

Chakraborty had heard about MacKenzie's early-stage trial to test enzyme therapy and thought early treatment might be a solution for the family.

The treatment could be "potentially very significant," said Dr. Brendan Lanpher, a medical geneticist at the Mayo Clinic in Rochester, Minnesota, who was not involved in the research.

"This is a progressive disease that builds up over time, so every day a fetus or baby has it, it builds up more material that affects muscle cells."

Still, it's too early to tell if the protocol will become an accepted treatment, said Dr. Christina Lam, interim medical director of biochemical genetics at the University of Washington and Seattle Children's Hospital in Seattle.

“It will take some time to really establish the evidence to definitively show that the results are better,” he said.

Ayla receives medication to suppress her immune system and weekly enzyme infusions that take five to six hours, an increasing challenge for a little girl, her mother said. Unless a new treatment comes along, Ayla can expect to continue the infusions for life. She is developing normally, for now. Her parents say that each milestone, like when she started to crawl, is especially precious.

“It's surreal. It surprises us every time,” Qureshi said. “We are so blessed. We have been very, very blessed.”

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